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Phenotypes Associated with This Genotype
Genotype
MGI:7367344
Allelic
Composition
Gnastm5.1Lsw/Gnastm5.1Lsw
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnastm5.1Lsw mutation (1 available); any Gnas mutation (53 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice are born at expected Mendelian ratios; however, all neonates die within hours after birth

homeostasis/metabolism
• newborns become progressively cyanotic

respiratory system
• at P0, the nasal capsule is missing
• at E17.5, the nasal septum cartilage is abnormally ossified and malformed
• thyroid cartilage is abnormally ossified at P0

behavior/neurological
• newborns are unable to suckle

craniofacial
• at P0, all mice exhibit severe craniofacial malformations
• however, embryos are grossly normal at E10.5 and E12.5
• newborns show severe craniofacial skeleton defects due to accelerated osteochondrogenic differentiation; the NCC-derived nasal capsule, maxilla, premaxilla, mandible, tympanic ring and body of hyoid bone are absent or severely malformed
• in contrast, mesoderm-derived skeleton elements including the parietal, lateral portion of the interparietal, supraoccipital, exoccipital, basioccipital and otic capsule are formed normally
• hyoid bone is heavily ossified at P0
• newborns exhibit an over-ossified body of the hyoid bone
• premature ossification in the body of hyoid bone is first seen at E15.5
• incisor tip is abnormally ossified at E14.5 and E15.5
• newborns exhibit a hypoplastic and malformed mandible
• mandibular bone is heavily ossified at P0
• at P0, the angular process is missing
• at P0, the condylar process is missing
• at P0, the coronoid process is missing
• at E16.5, E18.5 and P0, the mandible is severely shortened
• newborns exhibit a hypoplastic and malformed maxilla
• newborns exhibit a hypoplastic and malformed premaxilla
• at E16.5, E18.5 and P0, the maxilla is severely shortened
• at P0, mice exhibit a domed skull
• neonatal palatal bones are severely hypoplastic and thus palate is cleft
• at P0, the nasal capsule is missing
• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5
• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture
• at E14.5, embryos exhibit a round face
• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects
• at E16.5 and E18.5, the tongue is arched rather than flat
• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue
• at E17.5, the nasal septum cartilage is abnormally ossified and malformed
• at E14.5, embryos exhibit a short snout

skeleton
• newborns show severe craniofacial skeleton defects due to accelerated osteochondrogenic differentiation; the NCC-derived nasal capsule, maxilla, premaxilla, mandible, tympanic ring and body of hyoid bone are absent or severely malformed
• in contrast, mesoderm-derived skeleton elements including the parietal, lateral portion of the interparietal, supraoccipital, exoccipital, basioccipital and otic capsule are formed normally
• hyoid bone is heavily ossified at P0
• newborns exhibit an over-ossified body of the hyoid bone
• premature ossification in the body of hyoid bone is first seen at E15.5
• incisor tip is abnormally ossified at E14.5 and E15.5
• newborns exhibit a hypoplastic and malformed mandible
• mandibular bone is heavily ossified at P0
• at P0, the angular process is missing
• at P0, the condylar process is missing
• at P0, the coronoid process is missing
• at E16.5, E18.5 and P0, the mandible is severely shortened
• newborns exhibit a hypoplastic and malformed maxilla
• newborns exhibit a hypoplastic and malformed premaxilla
• at E16.5, E18.5 and P0, the maxilla is severely shortened
• at P0, mice exhibit a domed skull
• neonatal palatal bones are severely hypoplastic and thus palate is cleft
• at P0, the nasal capsule is missing
• at E17.5, the nasal septum cartilage is abnormally ossified and malformed
• thyroid cartilage is abnormally ossified at P0
• mice exhibit abnormal ossification within the maxilla and mandible, nasal septum, hyoid and laryngeal cartilages
• premature ossification in the body of hyoid bone is first seen at E15.5
• newborns exhibit premature frontal suture closure (craniosynostosis)

vision/eye
• at E14.5, embryos exhibit hypertelorism

hearing/vestibular/ear
• neonatal tympanic rings are thickened and deformed

nervous system
N
• morphology of cranial nerves is grossly normal at E10.5 and E12.5
• size of sympathetic ganglia is reduced at E16.5 and E17.5
• size of dorsal root ganglia is reduced at E16.5 and E17.5

digestive/alimentary system
• neonatal palatal bones are severely hypoplastic and thus palate is cleft
• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5
• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture
• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects
• at E16.5 and E18.5, the tongue is arched rather than flat
• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue

growth/size/body
• incisor tip is abnormally ossified at E14.5 and E15.5
• neonatal palatal bones are severely hypoplastic and thus palate is cleft
• at P0, the nasal capsule is missing
• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5
• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture
• at E14.5, embryos exhibit a round face
• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects
• at E16.5 and E18.5, the tongue is arched rather than flat
• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue
• at E17.5, the nasal septum cartilage is abnormally ossified and malformed
• at E14.5, embryos exhibit a short snout

cardiovascular system
N
• morphology of the cardiac outflow tract and cardiac development is grossly normal at E17.5

embryo
N
• both cranial neural crest cell (CNCC) migration and CNCC proliferation are normal


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory